title: Screening of parents and siblings of patients with thyroid dysgenesis by thyroid function tests and ultrasound.
abstract: OBJECTIVE
  To investigate the frequency of thyroid dysgenesis (TD) in first-degree relatives of TD cases.
  
  
  METHODS
  244 first-degree relatives of 82 TD cases were screened by thyroid ultrasound (USG), T(4), fT(4) and TSH. USG was also performed in 220 unrelated, age- and sex-matched healthy controls to obtain normative data for thyroid volumes.
  
  
  RESULTS
  Specific diagnoses of indexes were 35 ectopia, 22 athyreosis, 14 severe hypoplasia, 8 hypoplasia, and 3 hemiagenesis/asymmetric hypoplasia. In 5 of 77 families (6.5%), there were 2 cases with known symptomatic TD. A total of 10 cases made familial symptomatic TD ratio 12% (10/82) in our cohort. Screening of 244 asymptomatic family members did not reveal new cases with overt hypothyroidism. However, low thyroid volume in 15 and slightly elevated TSH in 6 family members and both in 1 family member were detected (7.4% for low thyroid volume, 3.2% for high TSH). Thus, the ratio of affected (symptomatic and asymptomatic) family members among families of TD cases was found to be 8.7%.
  
  
  CONCLUSIONS
  12% of TD cases are familial in our cohort. Screening of asymptomatic family members of TD revealed an additional 7.4% mild hypoplasia and 3.2% hyperthyrotropinemia without overt hypothyroidism which points out the importance of genetic factors in pathogenesis.
authors.affiliation: Pediatric Endocrinology Department of Marmara University, Istanbul, Turkey.
authors.forename: Elif
authors.initials: E
authors.lastname: Karakoc
authors.forename: Serap
authors.initials: S
authors.lastname: Turan
authors.forename: Ihsan
authors.initials: I
authors.lastname: Akpinar
authors.forename: Pinar
authors.initials: P
authors.lastname: Isguven
authors.forename: Erdal
authors.initials: E
authors.lastname: Adal
authors.forename: Goncagül
authors.initials: G
authors.lastname: Haklar
authors.forename: Fuat
authors.initials: F
authors.lastname: Dede
authors.forename: Abdullah
authors.initials: A
authors.lastname: Bereket
mesh_terms: D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D006801:Humans; D007223:Infant; D008403:Mass Screening; D008875:Middle Aged; D009929:Organ Size; D010375:Pedigree; D050033:Thyroid Dysgenesis / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics / Q000473:pathology; D013961:Thyroid Gland / Q000000981:diagnostic imaging* / Q000473:pathology; D013972:Thyrotropin / Q000097:blood*; D013974:Thyroxine / Q000097:blood*; D014463:Ultrasonography; D055815:Young Adult
chemical_list: D013972:Thyrotropin; D013974:Thyroxine